Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1561570
rs1561570
OPTN
2 0.925 0.080 10 13113726 intron variant T/C snv 0.43 0.820 1.000 4 2010 2018
dbSNP: rs10498635
rs10498635
RIN3
3 0.925 0.080 14 92636964 intron variant C/T snv 0.14 0.810 1.000 3 2010 2015
dbSNP: rs121909330
rs121909330
VCP
11 0.752 0.200 9 35065364 missense variant G/A;C;T snv 0.030 1.000 3 2008 2012
dbSNP: rs2458413
rs2458413
DPYS ; DCSTAMP
2 0.925 0.080 8 104347204 intron variant C/T snv 0.44 0.820 0.667 3 2010 2019
dbSNP: rs10494112
rs10494112 		2 0.925 0.080 1 109809855 downstream gene variant A/G snv 0.17 0.800 1.000 2 2010 2011
dbSNP: rs3018362
rs3018362 		4 0.882 0.120 18 62414860 upstream gene variant A/G snv 0.67 0.800 1.000 2 2010 2011
dbSNP: rs1162100771
rs1162100771
TNFSF11
1 1.000 0.040 13 42581288 missense variant C/G snv 0.010 1.000 1 2017 2017
dbSNP: rs121909331
rs121909331
VCP
5 0.851 0.200 9 35064167 missense variant G/T snv 0.010 1.000 1 2012 2012
dbSNP: rs1489694587
rs1489694587
DMD
3 0.882 0.120 X 31172385 missense variant A/C snv 0.010 1.000 1 2004 2004
dbSNP: rs17152980
rs17152980
UCMA
1 1.000 0.040 10 13234751 upstream gene variant G/C snv 9.6E-02 0.010 1.000 1 2012 2012
dbSNP: rs2095388
rs2095388 		1 1.000 0.040 10 13142045 upstream gene variant A/G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs2245214
rs2245214
ATG5
6 0.827 0.240 6 106214866 intron variant C/G snv 0.42 0.010 1.000 1 2015 2015
dbSNP: rs267606673
rs267606673
ATP7A ; PGK1
9 0.776 0.240 X 78029314 missense variant C/T snv 0.010 1.000 1 2012 2012
dbSNP: rs2957128
rs2957128 		2 0.925 0.080 18 62393502 downstream gene variant A/G snv 0.56 0.800 1.000 1 2010 2010
dbSNP: rs2980996
rs2980996 		2 0.925 0.080 18 62311902 downstream gene variant C/G;T snv 0.700 1.000 1 2010 2010
dbSNP: rs4294134
rs4294134
NUP205
2 0.925 0.080 7 135608380 intron variant A/G snv 0.76 0.800 1.000 1 2011 2011
dbSNP: rs484959
rs484959 		3 0.882 0.120 1 109823461 upstream gene variant T/A;C snv 0.800 1.000 1 2010 2010
dbSNP: rs4941107
rs4941107
PIGN
2 0.925 0.080 18 62084098 intron variant A/G snv 0.58 0.700 1.000 1 2010 2010
dbSNP: rs499345
rs499345 		2 0.925 0.080 1 109819060 intergenic variant C/A snv 0.32 0.700 1.000 1 2010 2010
dbSNP: rs565070
rs565070 		1 1.000 0.040 9 35054589 downstream gene variant G/A snv 0.48 0.010 1.000 1 2011 2011
dbSNP: rs5910578
rs5910578
SLC25A43
2 0.925 0.080 X 119433739 intron variant T/A;C;G snv 0.800 1.000 1 2011 2011
dbSNP: rs663354
rs663354
PIGN
2 0.925 0.080 18 62087057 intron variant C/T snv 0.25 0.700 1.000 1 2010 2010
dbSNP: rs754388
rs754388
RIN3
7 0.882 0.120 14 92649065 intron variant G/C;T snv 0.010 1.000 1 2014 2014
dbSNP: rs796052213
rs796052213
SQSTM1
2 0.925 0.040 5 179833749 stop gained A/T snv 0.010 1.000 1 2006 2006
dbSNP: rs825411
rs825411
OPTN
2 0.925 0.080 10 13127374 intron variant A/G;T snv 0.700 1.000 1 2010 2010